Canonical Allele Identifier: CA360943644

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1721272
• ClinVar RCV Id: RCV002294945
• MyVariant Identifiers: chr5:g.131925354A>T (hg19) ; chr5:g.132589662A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589662A>T , CM000667.2:g.132589662A>T	GRCh38
NC_000005.9:g.131925354A>T , CM000667.1:g.131925354A>T	GRCh37
NC_000005.8:g.131953253A>T	NCBI36
NG_021151.1:g.37739A>T
NG_021151.2:g.37686A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1277A>T MANE Select	ENSP00000368100.4:p.Gln426Leu
ENST00000638452.2:c.980A>T	ENSP00000492349.2:p.Gln327Leu
ENST00000638504.1:n.963A>T
ENST00000638568.2:c.980A>T	ENSP00000491158.2:p.Gln327Leu
ENST00000639899.1:n.1796A>T
ENST00000640655.2:c.980A>T	ENSP00000491596.2:p.Gln327Leu
ENST00000651160.1:c.1277A>T	ENSP00000498829.1:p.Gln426Leu
ENST00000651541.1:c.980A>T	ENSP00000498795.1:p.Gln327Leu
ENST00000651658.1:n.1704A>T
ENST00000651723.1:c.*1360A>T	ENSP00000498237.1:n.*1360A>T
ENST00000652016.1:c.1277A>T	ENSP00000498267.1:p.Gln426Leu
ENST00000652485.1:c.1277A>T	ENSP00000498973.1:p.Gln426Leu
ENST00000378823.7:c.1277A>T	ENSP00000368100.4:p.Gln426Leu
ENST00000423956.5:c.1277A>T	ENSP00000390971.1:p.Gln426Leu
ENST00000453394.5:c.1277A>T	ENSP00000400049.1:p.Gln426Leu
ENST00000533482.5:c.*903A>T	ENSP00000431225.1:n.*903A>T
NM_005732.3:c.1277A>T	NP_005723.2:p.Gln426Leu
NM_005732.4:c.1277A>T MANE Select	NP_005723.2:p.Gln426Leu